Correa Londoño, Martina; Weiss, Daniel (2023). Metastases-Like Liver Lesions in Two Different Types of Porphyria - Porphyria Cutanea Tarda (PCT) and Acute Hepatic Porphyria (AHP) - and the Role of CEUS. Ultraschall in der Medizin, 44(2), pp. 203-205. Thieme 10.1055/a-1541-7507
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Porphyria are a group of metabolic disorders caused by altered activity of enzymes in the heme biosynthesis pathway. Acute hepatic porphyria (AHP) are due to hepatic overproduction of the porphyrin precursors, delta aminolevulinic acid, and porphobilinogen, and the symptoms are probably caused primarily by injury to the nervous system. However, abdominal pain and nausea can be observed.
Porphyria cutanea tarda (PCT) is the most common of the porphyria with a prevalence of 5–10 per 100 000 people (D. Montgomery Bissell, K. E. et al. N Engl J Med 2017; 377: 862–872). In PCT, deficient enzymatic activity of uroporphyrinogen decarboxylase (UROD) in the liver leads to cutaneous phototoxicity after sun exposure. The most important susceptibility factors include hepatitis C virus infection, alcohol consumption, smoking, estrogen use, and genetic factors like UROD mutation and HFE mutations (S. Jalil et al. Clin Gastroenterol Hepatol 2010; 8: 297–302).
In ultrasonography (US) of PCT patients, the liver can be normal, exhibit fibrotic or cirrhotic changes, or rarely demonstrates hyperechogenic focal alterations (M. Nishiyama et al. Abdom Radiol 2017; 42: 1813–1818).
We report two cases of patients with rare findings not previously diagnosed with any porphyria.
Item Type: |
Journal Article (Further Contribution) |
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Division/Institute: |
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology |
UniBE Contributor: |
Correa-Londoño, Martina |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0172-4614 |
Publisher: |
Thieme |
Language: |
English |
Submitter: |
Maria de Fatima Henriques Bernardo |
Date Deposited: |
25 Aug 2021 11:35 |
Last Modified: |
01 Apr 2023 00:10 |
Publisher DOI: |
10.1055/a-1541-7507 |
PubMed ID: |
34352909 |
Additional Information: |
Case report |
BORIS DOI: |
10.48350/157945 |
URI: |
https://boris.unibe.ch/id/eprint/157945 |